Varaico: Literature-Extracted Genetic Variants

Gene:TTLL11
Variant:p.C254R

TTLL11

26 papers

Pfam Domains

TTLaa 173–480UCSCTubulin-tyrosine ligase family
EF_TTLL11aa 533–662UCSCTubulin polyglutamylase TTLL11, EF-hand

Gene Aliases

HGNC Name

tubulin tyrosine ligase like 11

HGNC Previous Symbols

C9orf20; TTLL11-IT1; C9orf148

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001139442.2
p.C254R
c.760T>C
Surrounding Variants
1 paper
NM_001139442.2
p.V248L
c.742G>T
1 paper
NM_001139442.2
p.D239_P240insCGG
c.715_719ins9
1 paper
NM_001139442.2
p.I285delFs
c.853delT
1 paper
NM_001139442.2
p.I285fs
c.853_854fs
1 paper
NM_001139442.2
p.A315A
c.945C>A
1 paper
NM_001139442.2
p.G318E
c.953G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."